Mutations in SIL1, which encodes a nucleotide exchange factor for the chaperone BiP, cause a progressive multisystem disorder that probably results from abnormal protein quality control in the endoplasmic reticulum.
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Zoghbi, H. SILencing misbehaving proteins. Nat Genet 37, 1302–1303 (2005). https://doi.org/10.1038/ng1205-1302
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DOI: https://doi.org/10.1038/ng1205-1302
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